|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) 26S subunit, non-ATPase, 3|
|Synonyms||Psd3, AntP91a, Tstap91a|
|Is this an essential gene?||Probably essential (E-score: 0.950)|
|Stock #||R7449 (G1)|
|Chromosomal Location||98682554-98695979 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 98695551 bp|
|Amino Acid Change||Leucine to Glutamine at position 515 (L515Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000017365 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000017365]|
|Predicted Effect||probably damaging
AA Change: L515Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L515Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmd3||
(F):5'- CCTACAACAAGGACCTGGAG -3'
(R):5'- TGTCACCAGCTACAGAGAGG -3'
(F):5'- TACAACAAGGACCTGGAGTCTGC -3'
(R):5'- ATCCCTGACCCCTGCACATATG -3'